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下一代测序鉴定双原发性和转移性恶性肿瘤的突变特征：一例报告。

Next-generation sequencing identifies the mutational signature of double primary and metastatic malignancies: A case report.

作者信息

Tang Shiying, Deng Yixiao, Yan Yinan, Bai Jie, He Huiying, Zhang Shudong, Yang Jie, Qiu Min, Tian Xiaojun

机构信息

Department of Urology, Peking University Third Hospital, Beijing, China.

YuceBio Technology Co., Ltd., Shenzhen, China.

出版信息

Curr Urol. 2025 Sep;19(5):359-362. doi: 10.1097/CU9.0000000000000251. Epub 2024 Jun 10.

DOI:10.1097/CU9.0000000000000251
PMID:40894277
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12398379/
Abstract

We present the case of a 59-year-old Chinese man diagnosed with stage III clear cell renal cell carcinoma who developed 2 suspicious lung lesions 5 years after follow-up. Pathological evaluation revealed 2 distinct types of cancer: lung adenocarcinoma in situ and clear cell renal carcinoma with lung metastasis. Lung tissue samples were sequenced using a panel of 1267 cancer-related genes. The analysis revealed completely different molecular profiles between the 2 lung lesions and similar clonal mutations in the superior lingular lobe and kidney. This indicates multiple metachronous primary tumors.

摘要

我们报告了一例59岁的中国男性病例，该患者被诊断为III期透明细胞肾细胞癌，随访5年后出现2个可疑的肺部病变。病理评估显示有2种不同类型的癌症：原位肺腺癌和伴有肺转移的透明细胞肾细胞癌。使用一组1267个与癌症相关的基因对肺组织样本进行测序。分析显示这2个肺部病变之间的分子谱完全不同，而上叶舌段和肾脏存在相似的克隆突变。这表明存在多个异时性原发性肿瘤。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7357/12398379/4968d46388cc/curr-urol-19-359-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7357/12398379/e5cd0c02fa56/curr-urol-19-359-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7357/12398379/4968d46388cc/curr-urol-19-359-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7357/12398379/e5cd0c02fa56/curr-urol-19-359-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7357/12398379/4968d46388cc/curr-urol-19-359-g002.jpg

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本文引用的文献

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Cancers (Basel). 2023 Mar 16;15(6):1804. doi: 10.3390/cancers15061804.
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Distinct mutational features across preinvasive and invasive subtypes identified through comprehensive profiling of surgically resected lung adenocarcinoma.通过对手术切除的肺腺癌进行全面分析，确定了浸润前和浸润性亚型之间的独特突变特征。
Mod Pathol. 2022 Sep;35(9):1181-1192. doi: 10.1038/s41379-022-01076-w. Epub 2022 May 31.
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Risks and cancer associations of metachronous and synchronous multiple primary cancers: a 25-year retrospective study.
异时性和同时性多原发癌的风险和癌症相关性：一项 25 年回顾性研究。
BMC Cancer. 2021 Sep 23;21(1):1045. doi: 10.1186/s12885-021-08766-9.
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Second Primary Cancers After Kidney Cancers, and Kidney Cancers as Second Primary Cancers.肾癌后的第二原发性癌症，以及作为第二原发性癌症的肾癌。
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BMC Cancer. 2020 Jan 21;20(1):51. doi: 10.1186/s12885-019-6452-0.
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Targeted sequencing identifies the mutational signature of double primary and metastatic malignancies: a case report.靶向测序鉴定双原发和转移恶性肿瘤的突变特征：病例报告。
Diagn Pathol. 2019 Sep 4;14(1):101. doi: 10.1186/s13000-019-0874-5.
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